ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy 6B by Lifecell International Pvt. Ltd

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1171-1G>A rs2468182873
NM_001165963.4(SCN1A):c.3793C>A (p.Leu1265Met) rs781526618
NM_001165963.4(SCN1A):c.3999G>A (p.Met1333Ile) rs1559140155
NM_001165963.4(SCN1A):c.5299G>T (p.Val1767Phe) rs2468334088

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